ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)

gnomAD frequency: 0.00006  dbSNP: rs201294520
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000625698 SCV000703301 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-06-24 criteria provided, single submitter clinical testing The patient carry biallelic muation c.8579A>G p.(Asn2860Ser) and c.9723G>C p.(Glu3241Asp)
Invitae RCV001439415 SCV001642300 likely benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000625698 SCV002026599 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848999 SCV002105101 uncertain significance Hereditary spastic paraplegia 2017-05-09 criteria provided, single submitter clinical testing

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